ClinVar for Gene (Select 246184) - ClinVar

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Links from Gene

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2538799	NM_139286.4(CDC26):c.82A>G (p.Thr28Ala)	CDC26 (T28A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511604	NM_139286.4(CDC26):c.148C>T (p.Leu50Phe)	CDC26 (L50F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370830	NM_139286.4(CDC26):c.80A>G (p.Glu27Gly)	CDC26 (E27G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250914	NM_139286.4(CDC26):c.155G>A (p.Ser52Asn)	CDC26 (S52N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ABCA1, ABHD17B +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527544	GRCh37/hg19 9q32(chr9:115883313-116179965)	ALAD, BSPRY +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686835	GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1	AKNA, ALAD +39 more	Copy number loss	not provided	GUncertain significance
Select item 686608	GRCh37/hg19 9q32(chr9:116034704-116199658)x3	ALAD, BSPRY +7 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	SUSD3, SVEP1 +769 more	Copy number gain	See cases	GPathogenic
Select item 442115	GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1	AKNA, ALAD +48 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	PPP1R26, PPP3R2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394605	GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1	ABITRAM, ACTL7A +61 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	TMEM268, TNC +377 more	Copy number loss	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 36